Canonical Allele Identifier: CA461830796

Gene: NBN

Linked Data

• ClinVar Variation Id: 1763613
• ClinVar RCV Id: RCV002414398
• MyVariant Identifiers: chr8:g.90982639A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970411A>G , CM000670.2:g.89970411A>G	GRCh38
NC_000008.10:g.90982639A>G , CM000670.1:g.90982639A>G	GRCh37
NC_000008.9:g.91051815A>G	NCBI36
NG_008860.1:g.19261T>C , LRG_158:g.19261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2151T>C
ENST00000517337.2:c.603T>C	ENSP00000429971.2:p.Pro201=
ENST00000523444.2:c.603T>C	ENSP00000428252.2:p.Pro201=
ENST00000697292.1:c.849T>C	ENSP00000513229.1:p.Pro283=
ENST00000697293.1:c.849T>C	ENSP00000513230.1:p.Pro283=
ENST00000697294.1:c.*460T>C	ENSP00000513231.1:n.*460T>C
ENST00000697295.1:c.*158T>C	ENSP00000513232.1:n.*158T>C
ENST00000697296.1:c.*517T>C	ENSP00000513233.1:n.*517T>C
ENST00000697297.1:n.2634T>C
ENST00000697298.1:c.603T>C	ENSP00000513234.1:p.Pro201=
ENST00000697299.1:c.603T>C	ENSP00000513235.1:p.Pro201=
ENST00000697300.1:c.*453T>C	ENSP00000513236.1:n.*453T>C
ENST00000697301.1:c.*370T>C	ENSP00000513237.1:n.*370T>C
ENST00000697302.1:c.*370T>C	ENSP00000513238.1:n.*370T>C
ENST00000697303.1:c.*453T>C	ENSP00000513239.1:n.*453T>C
ENST00000697304.1:c.585-5904T>C	ENSP00000513240.1:n.585-5904T>C
ENST00000697306.1:c.480+10323T>C	ENSP00000513241.1:n.480+10323T>C
ENST00000697307.1:c.849T>C	ENSP00000513242.1:p.Pro283=
ENST00000697308.1:c.849T>C	ENSP00000513243.1:p.Pro283=
ENST00000697309.1:c.849T>C	ENSP00000513244.1:p.Pro283=
ENST00000697310.1:c.849T>C	ENSP00000513245.1:p.Pro283=
ENST00000697311.1:c.849T>C	ENSP00000513246.1:p.Pro283=
ENST00000697312.1:c.*247T>C	ENSP00000513247.1:n.*247T>C
ENST00000697313.1:n.2640T>C
ENST00000697314.1:n.2640T>C
ENST00000697315.1:c.849T>C	ENSP00000513248.1:p.Pro283=
ENST00000697316.1:n.970T>C
ENST00000697317.1:n.959T>C
ENST00000697318.1:n.961T>C
ENST00000265433.8:c.849T>C MANE Select	ENSP00000265433.4:p.Pro283=
ENST00000265433.7:c.849T>C	ENSP00000265433.3:p.Pro283=
ENST00000396252.6:c.*722T>C	ENSP00000379551.2:n.*722T>C
ENST00000409330.5:c.603T>C	ENSP00000386924.1:p.Pro201=
NM_001024688.2:c.603T>C	NP_001019859.1:p.Pro201=
NM_002485.4:c.849T>C , LRG_158t1:c.849T>C	NP_002476.2:p.Pro283=
XM_011517044.1:c.825T>C	XP_011515346.1:p.Pro275=
XM_011517045.1:c.603T>C	XP_011515347.1:p.Pro201=
XM_011517046.1:c.849T>C	XP_011515348.1:p.Pro283=
XR_928335.1:n.986T>C
XM_017013460.1:c.-31T>C	XP_016868949.1:n.-31T>C
XM_017013462.2:c.-31T>C	XP_016868951.1:n.-31T>C
XM_024447163.1:c.603T>C	XP_024302931.1:p.Pro201=
XM_024447164.1:c.603T>C	XP_024302932.1:p.Pro201=
XM_024447165.1:c.-31T>C	XP_024302933.1:n.-31T>C
NM_002485.5:c.849T>C MANE Select	NP_002476.2:p.Pro283=
NM_001024688.3:c.603T>C	NP_001019859.1:p.Pro201=